Varaico: Literature-Extracted Genetic Variants

NF1

4,584 papers

RefSeq Summary

This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leuke...

Pfam Domains

RasGAPaa 1325–1451UCSCGTPase-activator protein for Ras-like GTPase

CRAL_TRIO_2aa 1602–1736UCSCDivergent CRAL/TRIO domain

PH_NF1aa 1737–1831UCSCPH domain-like

Gene Aliases

HGNC Name

neurofibromin 1

HGNC Alias Names

neurofibromatosis; von Recklinghausen disease; Watson disease

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001042492.3

p.L1779P

c.5336T>C

Surrounding Variants

2 papers

NM_000267.3

p.N1759delFs

c.5276delA

NM_001042492.3

p.L1779delFs

c.5337delA

1 paper

NM_000267.3

p.N1759fs

c.5275_5276fs

1 paper

NM_001042492.3

p.F1778fs

c.5332_5333fs

1 paper

NM_001042492.3

p.D1781delFs

c.5341delG

1 paper

NM_001042492.3

p.V1777V

c.5331C>T

1 paper

NM_001042492.3

p.D1781Y

c.5341G>T

1 paper

NM_001042492.3

p.D1781fs

c.5341_5342fs

1 paper

NM_001042492.3

p.D1781V

c.5342A>T

1 paper

NM_001042492.3

p.V1777D

c.5330T>A

1 paper

NM_001042492.3

p.V1777delFs

c.5330delT

1 paper

NM_001042492.3

p.I1782V

c.5344A>G

6 papers

NM_000267.3

p.V1756_N1759del4

c.5266_5276del12